Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769